Journal of Investigative Medicine High Impact Case Reports (Mar 2017)

Neonatal Diabetes

  • Shawn Sood MD,
  • Hannah Landreth BA,
  • Jessee Bustinza DO,
  • Laura Chalmers MD,
  • Roopa Thukaram MD

DOI
https://doi.org/10.1177/2324709617698718
Journal volume & issue
Vol. 5

Abstract

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Context: Neonatal diabetes mellitus, a rare condition occurring in approximately 1 in 500 000 live births, is defined as insulin-requiring hyperglycemia presenting in the first months of life. Neonatal diabetes can be transient or permanent, with studies characterizing the condition as a monogenic disorder. Case Report: We describe a case of a 9-week-old infant with neonatal diabetes who presented in diabetic ketoacidosis due to a mutation affecting the ABCC8 gene that encodes the SUR1 subunit of the potassium ATP channel. Conclusion: This genetic diagnosis has therapeutic implications regarding the initiation of sulfonylurea administration as 85% of patients with neonatal diabetes due to ABCC8 gene mutations can be successfully treated with oral sulfonylurea treatment.